Laura Bernardini
24PUBLICATIONS
79CO-AUTHORS
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Publications (24)
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|Jan 27, 2025
Prenatal diagnosis following preimplantation genetic testing (PGT): recommendations of the Italian Society of Human Genetics (SIGU).Francesca Romana Grati, Antonio Capalbo, Ilaria Gabbiato
|Jan 26, 2025
Cardiac Involvement and TBCK -Related Neurodevelopmental Disorder: Is It a New Feature of This Condition?Gioia Mastromoro, Daniele Guadagnolo, Francesca Gianno
|Oct 24, 2024
A Missense Variant Affecting the N-Terminal Domain of the Laminin-332 β3 Chain Results in a Distinct Form of Junctional Epidermolysis Bullosa With Altered Granulation Tissue Response and No New Blistering: A Second Family Report.Marina Goldoni, Barbara Torres, Maurizio Pettinato
|Dec 23, 2023
Duplication at 19q13.32q13.33 Segregating with Neuropsychiatric Phenotype in a Three-Generation Family: Towards the Definition of a Critical Region.Daniele Guadagnolo, Gioia Mastromoro, Barbara Torres
|Oct 12, 2023
A new gene for autosomal dominant facial palsy/migraine identified in a family by whole exome sequencing.Alessia Azzarà, Ilaria Cassano, Carla Lintas
|Aug 26, 2023
Split Hand-Foot and Deafness in a Patient with 7q21.13-q21.3 Deletion Not Including the <i>DLX5/6</i> Genes.Irene Ambrosetti, Laura Bernardini, Marzia Pollazzon
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Frequent Collaborators
5 joint publications
Alessandro De Luca
4 joint publications
Gioia Mastromoro
3 joint publications
Daniele Guadagnolo
3 joint publications
Gerardo Piacentini
2 joint publications
Nicola Brunetti-Pierri
2 joint publications
Carolina Putotto
2 joint publications
Tommaso Mazza
2 joint publications
Barbara Torres
2 joint publications
Daryl A Scott
2 joint publications
Francesco Brancati
